Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.N234K
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SETBP1

NM_015559.3:p.N234K

Associated Papers

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Wong MMK et al.

Nature Communications, 2025

41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM6_ESM.xlsx › Sheet1

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3
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